Incidental Mutation 'R8324:Myo1d'
| ID |
644003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Myo1d
|
| Ensembl Gene |
ENSMUSG00000035441 |
| Gene Name |
myosin ID |
| Synonyms |
9930104H07Rik, D11Ertd9e |
| MMRRC Submission |
067725-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
80482126-80780025 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80557521 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 926
(D926V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037819
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041065]
|
| AlphaFold |
Q5SYD0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041065
AA Change: D926V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037819
Gene: ENSMUSG00000035441
AA Change: D926V
| Domain | Start | End | E-Value | Type |
|---|
|
MYSc
|
3 |
696 |
N/A |
SMART |
|
IQ
|
697 |
719 |
1.46e-3 |
SMART |
|
Pfam:Myosin_TH1
|
803 |
1006 |
4.1e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.9431 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,290,395 (GRCm38) |
S753P |
probably damaging |
Het |
| Acan |
A |
G |
7: 79,091,056 (GRCm38) |
E390G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 97,938,509 (GRCm38) |
N413S |
probably damaging |
Het |
| Bace2 |
C |
T |
16: 97,356,908 (GRCm38) |
A36V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,783,181 (GRCm38) |
R79* |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,727,325 (GRCm38) |
V507A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 52,022,879 (GRCm38) |
|
probably null |
Het |
| Chst5 |
A |
T |
8: 111,890,508 (GRCm38) |
L160Q |
probably benign |
Het |
| Col11a1 |
C |
G |
3: 114,164,410 (GRCm38) |
P1111R |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,755,654 (GRCm38) |
E1470D |
probably benign |
Het |
| Cpped1 |
T |
A |
16: 11,805,476 (GRCm38) |
T274S |
probably benign |
Het |
| Ctnnbl1 |
G |
A |
2: 157,779,815 (GRCm38) |
E75K |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,659,528 (GRCm38) |
S15P |
probably benign |
Het |
| Ddx46 |
T |
C |
13: 55,663,914 (GRCm38) |
S643P |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,123,798 (GRCm38) |
Q16R |
probably null |
Het |
| Dhrs2 |
T |
A |
14: 55,238,764 (GRCm38) |
V147E |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,346,865 (GRCm38) |
R2498L |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,854,172 (GRCm38) |
I93F |
probably benign |
Het |
| Eef1e1 |
T |
A |
13: 38,655,069 (GRCm38) |
D104V |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,908,885 (GRCm38) |
I955L |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,858,971 (GRCm38) |
Y55C |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,719,998 (GRCm38) |
V426F |
possibly damaging |
Het |
| Fam234a |
C |
T |
17: 26,218,698 (GRCm38) |
V108I |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,688 (GRCm38) |
M590K |
probably damaging |
Het |
| Gm13287 |
T |
C |
4: 88,803,638 (GRCm38) |
S129P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 78,755,364 (GRCm38) |
S1919P |
possibly damaging |
Het |
| Hspg2 |
C |
G |
4: 137,518,979 (GRCm38) |
P1023A |
possibly damaging |
Het |
| Ikbkap |
C |
T |
4: 56,772,491 (GRCm38) |
E877K |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,328,398 (GRCm38) |
E1233G |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,418,314 (GRCm38) |
L186P |
probably damaging |
Het |
| Krt72 |
T |
A |
15: 101,782,145 (GRCm38) |
Y224F |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,339,579 (GRCm38) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,102,571 (GRCm38) |
T914A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 80,021,991 (GRCm38) |
T129A |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,276,636 (GRCm38) |
I244F |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,329,974 (GRCm38) |
L41Q |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,436,217 (GRCm38) |
R426G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,445,288 (GRCm38) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,788,917 (GRCm38) |
|
probably null |
Het |
| Ncapg |
T |
G |
5: 45,695,668 (GRCm38) |
H825Q |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,590,363 (GRCm38) |
S212P |
probably benign |
Het |
| Olfr656 |
G |
A |
7: 104,618,114 (GRCm38) |
R145H |
probably benign |
Het |
| Pak2 |
T |
C |
16: 32,052,211 (GRCm38) |
N51S |
probably benign |
Het |
| Papln |
T |
C |
12: 83,786,619 (GRCm38) |
Y1132H |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,193,789 (GRCm38) |
R134S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,770,937 (GRCm38) |
E990G |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,207,476 (GRCm38) |
W1394R |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,829,010 (GRCm38) |
N285D |
probably benign |
Het |
| Pramef12 |
A |
C |
4: 144,395,857 (GRCm38) |
L39R |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,156,984 (GRCm38) |
S897P |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 119,123,831 (GRCm38) |
T131A |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,400,726 (GRCm38) |
T255S |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,597,345 (GRCm38) |
E403* |
probably null |
Het |
| Rictor |
T |
A |
15: 6,745,562 (GRCm38) |
V125E |
probably damaging |
Het |
| Rps6ka5 |
C |
T |
12: 100,558,487 (GRCm38) |
D664N |
possibly damaging |
Het |
| Rreb1 |
T |
A |
13: 37,947,621 (GRCm38) |
W1584R |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,741,183 (GRCm38) |
I142T |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,312,886 (GRCm38) |
T951A |
probably benign |
Het |
| Slc15a2 |
T |
G |
16: 36,759,307 (GRCm38) |
N359T |
probably damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,622,535 (GRCm38) |
G436E |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,337,414 (GRCm38) |
*603Q |
probably null |
Het |
| Sptb |
T |
C |
12: 76,619,162 (GRCm38) |
D894G |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,507,665 (GRCm38) |
L17P |
probably damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,897,371 (GRCm38) |
|
probably null |
Het |
| Trav9n-4 |
T |
C |
14: 53,294,946 (GRCm38) |
F86L |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,876,734 (GRCm38) |
Y482C |
unknown |
Het |
| Ttc9b |
G |
T |
7: 27,653,969 (GRCm38) |
A15S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,791,190 (GRCm38) |
I410N |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,378,893 (GRCm38) |
K237* |
probably null |
Het |
| Wwox |
G |
A |
8: 114,489,005 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Myo1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Myo1d
|
APN |
11 |
80,601,740 (GRCm38) |
missense |
probably benign |
|
|
IGL01087:Myo1d
|
APN |
11 |
80,682,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01326:Myo1d
|
APN |
11 |
80,684,321 (GRCm38) |
splice site |
probably benign |
|
|
IGL01431:Myo1d
|
APN |
11 |
80,674,839 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01595:Myo1d
|
APN |
11 |
80,676,110 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01811:Myo1d
|
APN |
11 |
80,692,997 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02301:Myo1d
|
APN |
11 |
80,676,853 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL02388:Myo1d
|
APN |
11 |
80,637,997 (GRCm38) |
nonsense |
probably null |
|
|
IGL02485:Myo1d
|
APN |
11 |
80,666,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03017:Myo1d
|
APN |
11 |
80,601,626 (GRCm38) |
missense |
probably benign |
0.26 |
|
horton
|
UTSW |
11 |
80,674,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
multifaceted
|
UTSW |
11 |
80,693,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whisper
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
whisper2
|
UTSW |
11 |
80,666,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
whisper3
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,637,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0069:Myo1d
|
UTSW |
11 |
80,637,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0081:Myo1d
|
UTSW |
11 |
80,557,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0096:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0096:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0244:Myo1d
|
UTSW |
11 |
80,674,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0711:Myo1d
|
UTSW |
11 |
80,484,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0746:Myo1d
|
UTSW |
11 |
80,586,879 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1084:Myo1d
|
UTSW |
11 |
80,684,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1514:Myo1d
|
UTSW |
11 |
80,685,908 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1676:Myo1d
|
UTSW |
11 |
80,684,421 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1862:Myo1d
|
UTSW |
11 |
80,663,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2497:Myo1d
|
UTSW |
11 |
80,674,821 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2512:Myo1d
|
UTSW |
11 |
80,779,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3425:Myo1d
|
UTSW |
11 |
80,601,638 (GRCm38) |
missense |
probably benign |
|
|
R3429:Myo1d
|
UTSW |
11 |
80,682,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3917:Myo1d
|
UTSW |
11 |
80,666,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3928:Myo1d
|
UTSW |
11 |
80,484,261 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4706:Myo1d
|
UTSW |
11 |
80,666,641 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4723:Myo1d
|
UTSW |
11 |
80,779,841 (GRCm38) |
utr 5 prime |
probably benign |
|
|
R4924:Myo1d
|
UTSW |
11 |
80,674,678 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5042:Myo1d
|
UTSW |
11 |
80,557,521 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5320:Myo1d
|
UTSW |
11 |
80,684,323 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5481:Myo1d
|
UTSW |
11 |
80,663,095 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6214:Myo1d
|
UTSW |
11 |
80,779,791 (GRCm38) |
start codon destroyed |
probably null |
0.98 |
|
R6235:Myo1d
|
UTSW |
11 |
80,692,944 (GRCm38) |
missense |
probably benign |
0.23 |
|
R6282:Myo1d
|
UTSW |
11 |
80,557,512 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6468:Myo1d
|
UTSW |
11 |
80,557,474 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6668:Myo1d
|
UTSW |
11 |
80,583,875 (GRCm38) |
intron |
probably benign |
|
|
R6954:Myo1d
|
UTSW |
11 |
80,674,957 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7077:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7078:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7080:Myo1d
|
UTSW |
11 |
80,674,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7172:Myo1d
|
UTSW |
11 |
80,592,795 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7276:Myo1d
|
UTSW |
11 |
80,693,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7467:Myo1d
|
UTSW |
11 |
80,586,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7650:Myo1d
|
UTSW |
11 |
80,601,684 (GRCm38) |
missense |
probably benign |
|
|
R7678:Myo1d
|
UTSW |
11 |
80,676,893 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7859:Myo1d
|
UTSW |
11 |
80,684,377 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8329:Myo1d
|
UTSW |
11 |
80,638,074 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8474:Myo1d
|
UTSW |
11 |
80,670,919 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8799:Myo1d
|
UTSW |
11 |
80,684,379 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8810:Myo1d
|
UTSW |
11 |
80,676,932 (GRCm38) |
missense |
probably benign |
0.30 |
|
R8810:Myo1d
|
UTSW |
11 |
80,674,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8823:Myo1d
|
UTSW |
11 |
80,601,745 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9221:Myo1d
|
UTSW |
11 |
80,674,918 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9494:Myo1d
|
UTSW |
11 |
80,484,267 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9625:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9626:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9628:Myo1d
|
UTSW |
11 |
80,557,470 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
Z1088:Myo1d
|
UTSW |
11 |
80,674,898 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCGGATGCTAATTTCACC -3'
(R):5'- CCTTACTCCATGAAACTTGTTAAAGG -3'
Sequencing Primer
(F):5'- GCCGGATGCTAATTTCACCTTCTATG -3'
(R):5'- GGTTAAAATCGTCACCATCGTTGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation